Mutagenetix > Incidental Mutation

Incidental Mutation 'R8807:Dop1b'

672176

Institutional Source

Beutler Lab

Gene Symbol

Dop1b

Ensembl Gene

ENSMUSG00000022946

Gene Name

DOP1 leucine zipper like protein B

Synonyms

Dopey2, 0610038M01Rik, 2610510B01Rik

MMRRC Submission

068643-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93508795-93607476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93558973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 573 (V573E)

Ref Sequence

ENSEMBL: ENSMUSP00000044437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045004] [ENSMUST00000227156]

AlphaFold

Q3UHQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000045004
AA Change: V573E

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000044437
Gene: ENSMUSG00000022946
AA Change: V573E

Domain	Start	End	E-Value	Type
Pfam:Dopey_N	11	308	3.9e-104	PFAM
low complexity region	651	666	N/A	INTRINSIC
low complexity region	709	719	N/A	INTRINSIC
low complexity region	747	759	N/A	INTRINSIC
low complexity region	1186	1199	N/A	INTRINSIC
low complexity region	1436	1451	N/A	INTRINSIC
low complexity region	1893	1908	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226215

Predicted Effect

probably benign
Transcript: ENSMUST00000226836

Predicted Effect

probably benign
Transcript: ENSMUST00000227156
AA Change: V455E

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	C	5: 48,534,494 (GRCm39)	I118T	probably damaging	Het
Abca8a	A	T	11: 109,974,252 (GRCm39)	F227L	probably benign	Het
Abcc6	A	T	7: 45,648,431 (GRCm39)	I687N	possibly damaging	Het
Akain1	T	C	17: 69,794,340 (GRCm39)	*70Q	probably null	Het
Allc	C	T	12: 28,615,489 (GRCm39)	G89S	probably damaging	Het
Aoc1l3	T	C	6: 48,965,188 (GRCm39)	F399L	probably benign	Het
Artn	A	T	4: 117,783,915 (GRCm39)	S184T	possibly damaging	Het
B3galt9	A	T	2: 34,728,818 (GRCm39)	I206F	probably damaging	Het
Bcl2a1c	A	T	9: 114,159,248 (GRCm39)	I9F	probably damaging	Het
Cacna2d1	T	A	5: 16,472,452 (GRCm39)	D286E	probably damaging	Het
Cdc25a	G	A	9: 109,708,303 (GRCm39)	E98K	probably benign	Het
Cdcp3	A	T	7: 130,846,507 (GRCm39)	I644F	probably damaging	Het
Cdr2l	A	T	11: 115,284,741 (GRCm39)	Q359L	probably damaging	Het
Cmip	C	T	8: 118,138,094 (GRCm39)	T103M	probably benign	Het
Dcaf1	A	G	9: 106,742,268 (GRCm39)	T1358A	probably benign	Het
Dedd2	C	T	7: 24,910,705 (GRCm39)	R157Q	probably benign	Het
Dhrs1	A	G	14: 55,982,499 (GRCm39)	V9A	probably damaging	Het
Eef2k	A	T	7: 120,490,930 (GRCm39)	I517F	possibly damaging	Het
En1	T	C	1: 120,531,090 (GRCm39)	F110S	possibly damaging	Het
Evpl	T	A	11: 116,111,853 (GRCm39)	I1946F	probably damaging	Het
Gaa	A	T	11: 119,168,393 (GRCm39)	M502L	probably benign	Het
Gfer	C	T	17: 24,914,846 (GRCm39)	A66T	possibly damaging	Het
Gm13271	A	G	4: 88,673,213 (GRCm39)	T37A	probably benign	Het
Grm3	C	T	5: 9,561,499 (GRCm39)	A784T	probably damaging	Het
H3c8	A	G	13: 23,719,628 (GRCm39)	K5E	probably benign	Het
Helz	C	G	11: 107,493,835 (GRCm39)	S277C	probably damaging	Het
Henmt1	T	G	3: 108,867,652 (GRCm39)	*396G	probably null	Het
Hfe	C	T	13: 23,889,667 (GRCm39)	V327I	probably benign	Het
Hoxd8	A	T	2: 74,536,313 (GRCm39)	Q141L	probably damaging	Het
Hspa12b	T	G	2: 130,987,103 (GRCm39)	S675A	probably benign	Het
Ifi214	G	A	1: 173,354,133 (GRCm39)	T179I	possibly damaging	Het
Ighv5-9	T	A	12: 113,625,404 (GRCm39)	Y113F	possibly damaging	Het
Lca5l	T	A	16: 95,979,808 (GRCm39)	R112S	probably benign	Het
Lmbrd1	C	T	1: 24,770,843 (GRCm39)	P257S	probably benign	Het
Loxhd1	C	T	18: 77,444,468 (GRCm39)	T608I	possibly damaging	Het
Lpl	C	A	8: 69,345,280 (GRCm39)	L95I	probably damaging	Het
Lrp2bp	A	T	8: 46,473,732 (GRCm39)	Q196L	probably damaging	Het
Ly6h	A	G	15: 75,438,056 (GRCm39)	Y19H	probably benign	Het
Mfsd6	T	C	1: 52,697,706 (GRCm39)		probably benign	Het
Mpo	T	C	11: 87,687,165 (GRCm39)	I237T	probably benign	Het
Mrpl41	A	G	2: 24,864,878 (GRCm39)	W6R	unknown	Het
Muc16	T	A	9: 18,567,353 (GRCm39)	H1722L	unknown	Het
Mug1	A	C	6: 121,851,434 (GRCm39)	D777A	probably benign	Het
Myh1	A	T	11: 67,111,354 (GRCm39)	I1598F	probably benign	Het
Myo1f	C	T	17: 33,794,879 (GRCm39)	R40C	probably damaging	Het
Myo6	G	A	9: 80,207,949 (GRCm39)		probably null	Het
Nbeal2	G	T	9: 110,458,707 (GRCm39)	N2071K	probably damaging	Het
Nectin4	T	A	1: 171,211,282 (GRCm39)	C269S	probably damaging	Het
Nhlrc1	A	T	13: 47,167,990 (GRCm39)	L89Q	probably damaging	Het
Nup205	T	C	6: 35,160,904 (GRCm39)	F103S	probably damaging	Het
Obscn	C	A	11: 58,970,470 (GRCm39)	V2379F	probably damaging	Het
Or5m8	A	T	2: 85,823,172 (GRCm39)	*337L	probably null	Het
Or5p62	A	T	7: 107,771,852 (GRCm39)	I33N	possibly damaging	Het
Plppr2	TCGCC	TC	9: 21,855,727 (GRCm39)		probably benign	Het
Ptbp3	A	G	4: 59,517,584 (GRCm39)	V101A	probably benign	Het
Rps6kb2	C	T	19: 4,213,229 (GRCm39)	D6N	probably damaging	Het
Rsph1	T	A	17: 31,484,828 (GRCm39)	H154L	probably damaging	Het
Sdk1	G	A	5: 142,071,382 (GRCm39)	V1191M	probably damaging	Het
Selenos	T	A	7: 65,729,467 (GRCm39)	D2E	probably benign	Het
Sema5a	G	A	15: 32,562,868 (GRCm39)	G293D	possibly damaging	Het
Sgcg	A	G	14: 61,469,930 (GRCm39)	S144P	probably damaging	Het
Sh3d19	T	C	3: 85,992,659 (GRCm39)	V229A	probably benign	Het
Sin3b	C	T	8: 73,476,708 (GRCm39)	A714V	probably benign	Het
Slitrk6	T	A	14: 110,988,123 (GRCm39)	Q528L	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,535,932 (GRCm39)	L4063H	probably damaging	Het
Stard9	A	C	2: 120,535,943 (GRCm39)	K4067Q	probably damaging	Het
Terb1	A	G	8: 105,195,741 (GRCm39)		probably null	Het
Tex2	T	A	11: 106,435,194 (GRCm39)	H744L	unknown	Het
Tex2	T	C	11: 106,458,414 (GRCm39)	S339G	unknown	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Trhr	A	T	15: 44,061,212 (GRCm39)	N244I	probably benign	Het
Ttn	G	A	2: 76,582,409 (GRCm39)	A22828V	probably damaging	Het
Uchl1	C	T	5: 66,833,601 (GRCm39)		probably benign	Het
Uroc1	A	T	6: 90,328,110 (GRCm39)	I529F	probably damaging	Het
Vps13c	G	T	9: 67,766,122 (GRCm39)	V80F	probably damaging	Het
Wnt1	T	A	15: 98,690,645 (GRCm39)	C325S	probably damaging	Het

Other mutations in Dop1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Dop1b	APN	16	93,596,914 (GRCm39)	unclassified	probably benign
IGL00492:Dop1b	APN	16	93,577,670 (GRCm39)	missense	probably benign	0.00
IGL00753:Dop1b	APN	16	93,566,512 (GRCm39)	missense	probably benign
IGL00832:Dop1b	APN	16	93,560,289 (GRCm39)	missense	probably benign	0.01
IGL00939:Dop1b	APN	16	93,570,971 (GRCm39)	missense	possibly damaging	0.83
IGL01019:Dop1b	APN	16	93,607,117 (GRCm39)	missense	probably benign	0.32
IGL01288:Dop1b	APN	16	93,536,181 (GRCm39)	missense	possibly damaging	0.78
IGL01505:Dop1b	APN	16	93,554,004 (GRCm39)	missense	possibly damaging	0.87
IGL01535:Dop1b	APN	16	93,566,846 (GRCm39)	nonsense	probably null
IGL01696:Dop1b	APN	16	93,567,128 (GRCm39)	missense	probably benign	0.00
IGL02077:Dop1b	APN	16	93,577,648 (GRCm39)	missense	probably damaging	0.96
IGL02163:Dop1b	APN	16	93,559,315 (GRCm39)	missense	possibly damaging	0.48
IGL02234:Dop1b	APN	16	93,549,039 (GRCm39)	missense	probably benign
IGL02302:Dop1b	APN	16	93,607,005 (GRCm39)	missense	probably benign	0.08
IGL02485:Dop1b	APN	16	93,567,710 (GRCm39)	missense	probably damaging	1.00
IGL02563:Dop1b	APN	16	93,574,293 (GRCm39)	missense	probably damaging	0.99
IGL02733:Dop1b	APN	16	93,536,079 (GRCm39)	missense	possibly damaging	0.80
IGL02792:Dop1b	APN	16	93,598,460 (GRCm39)	missense	possibly damaging	0.75
IGL02941:Dop1b	APN	16	93,552,361 (GRCm39)	missense	probably benign	0.09
IGL03143:Dop1b	APN	16	93,556,543 (GRCm39)	missense	probably benign
PIT4519001:Dop1b	UTSW	16	93,558,942 (GRCm39)	missense	probably benign
R0320:Dop1b	UTSW	16	93,607,035 (GRCm39)	missense	probably benign	0.02
R0499:Dop1b	UTSW	16	93,567,325 (GRCm39)	missense	probably benign	0.00
R0501:Dop1b	UTSW	16	93,549,750 (GRCm39)	missense	probably benign	0.00
R0534:Dop1b	UTSW	16	93,559,393 (GRCm39)	missense	probably benign	0.04
R0583:Dop1b	UTSW	16	93,552,374 (GRCm39)	missense	probably benign	0.30
R0626:Dop1b	UTSW	16	93,560,844 (GRCm39)	missense	probably damaging	1.00
R0724:Dop1b	UTSW	16	93,559,213 (GRCm39)	missense	probably benign	0.01
R0907:Dop1b	UTSW	16	93,598,481 (GRCm39)	missense	probably damaging	1.00
R1263:Dop1b	UTSW	16	93,574,274 (GRCm39)	missense	probably benign
R1378:Dop1b	UTSW	16	93,567,280 (GRCm39)	missense	probably benign
R1572:Dop1b	UTSW	16	93,567,041 (GRCm39)	missense	probably damaging	1.00
R1604:Dop1b	UTSW	16	93,559,458 (GRCm39)	missense	probably benign
R1642:Dop1b	UTSW	16	93,559,203 (GRCm39)	missense	probably benign	0.00
R1668:Dop1b	UTSW	16	93,562,404 (GRCm39)	missense	probably damaging	1.00
R1669:Dop1b	UTSW	16	93,566,548 (GRCm39)	missense	probably damaging	1.00
R1702:Dop1b	UTSW	16	93,544,509 (GRCm39)	missense	possibly damaging	0.47
R1711:Dop1b	UTSW	16	93,596,814 (GRCm39)	missense	probably damaging	1.00
R1917:Dop1b	UTSW	16	93,513,150 (GRCm39)	missense	probably damaging	1.00
R1968:Dop1b	UTSW	16	93,579,307 (GRCm39)	missense	probably damaging	1.00
R1988:Dop1b	UTSW	16	93,563,061 (GRCm39)	missense	probably damaging	1.00
R2029:Dop1b	UTSW	16	93,566,323 (GRCm39)	missense	probably benign	0.36
R2139:Dop1b	UTSW	16	93,567,895 (GRCm39)	missense	possibly damaging	0.78
R2355:Dop1b	UTSW	16	93,567,565 (GRCm39)	missense	probably damaging	1.00
R3609:Dop1b	UTSW	16	93,536,220 (GRCm39)	missense	probably damaging	1.00
R3792:Dop1b	UTSW	16	93,568,734 (GRCm39)	missense	possibly damaging	0.54
R4364:Dop1b	UTSW	16	93,567,812 (GRCm39)	missense	probably benign	0.00
R4380:Dop1b	UTSW	16	93,513,120 (GRCm39)	missense	possibly damaging	0.53
R4455:Dop1b	UTSW	16	93,563,103 (GRCm39)	missense	probably damaging	1.00
R4779:Dop1b	UTSW	16	93,553,969 (GRCm39)	missense	probably damaging	1.00
R4820:Dop1b	UTSW	16	93,589,978 (GRCm39)	missense	probably benign	0.00
R4834:Dop1b	UTSW	16	93,536,892 (GRCm39)	start codon destroyed	probably null	0.70
R4866:Dop1b	UTSW	16	93,560,318 (GRCm39)	critical splice donor site	probably null
R4882:Dop1b	UTSW	16	93,549,802 (GRCm39)	missense	possibly damaging	0.95
R4900:Dop1b	UTSW	16	93,560,318 (GRCm39)	critical splice donor site	probably null
R5153:Dop1b	UTSW	16	93,570,891 (GRCm39)	missense	probably damaging	0.98
R5176:Dop1b	UTSW	16	93,536,931 (GRCm39)	missense	probably damaging	1.00
R5206:Dop1b	UTSW	16	93,598,472 (GRCm39)	missense	probably damaging	1.00
R5320:Dop1b	UTSW	16	93,536,874 (GRCm39)	missense	probably damaging	1.00
R5361:Dop1b	UTSW	16	93,567,392 (GRCm39)	missense	probably damaging	1.00
R5380:Dop1b	UTSW	16	93,560,298 (GRCm39)	missense	probably damaging	0.96
R5476:Dop1b	UTSW	16	93,570,801 (GRCm39)	splice site	probably null
R5502:Dop1b	UTSW	16	93,590,114 (GRCm39)	missense	probably benign	0.00
R5543:Dop1b	UTSW	16	93,595,808 (GRCm39)	missense	probably damaging	0.98
R5557:Dop1b	UTSW	16	93,560,819 (GRCm39)	missense	probably damaging	0.96
R5901:Dop1b	UTSW	16	93,566,639 (GRCm39)	missense	possibly damaging	0.88
R5907:Dop1b	UTSW	16	93,598,469 (GRCm39)	missense	probably damaging	1.00
R6174:Dop1b	UTSW	16	93,563,110 (GRCm39)	missense	probably damaging	1.00
R6256:Dop1b	UTSW	16	93,604,102 (GRCm39)	missense	possibly damaging	0.94
R6383:Dop1b	UTSW	16	93,579,136 (GRCm39)	missense	possibly damaging	0.76
R6525:Dop1b	UTSW	16	93,606,304 (GRCm39)	missense	probably damaging	1.00
R6554:Dop1b	UTSW	16	93,557,346 (GRCm39)	missense	probably benign	0.22
R6823:Dop1b	UTSW	16	93,552,373 (GRCm39)	missense	possibly damaging	0.75
R7036:Dop1b	UTSW	16	93,574,378 (GRCm39)	missense	probably benign	0.01
R7058:Dop1b	UTSW	16	93,573,878 (GRCm39)	missense	probably benign	0.00
R7061:Dop1b	UTSW	16	93,558,951 (GRCm39)	missense	probably benign	0.00
R7209:Dop1b	UTSW	16	93,566,733 (GRCm39)	missense	probably benign
R7214:Dop1b	UTSW	16	93,607,023 (GRCm39)	missense	possibly damaging	0.69
R7232:Dop1b	UTSW	16	93,557,373 (GRCm39)	critical splice donor site	probably null
R7255:Dop1b	UTSW	16	93,567,034 (GRCm39)	missense	probably damaging	1.00
R7335:Dop1b	UTSW	16	93,544,396 (GRCm39)	missense	probably benign	0.04
R7535:Dop1b	UTSW	16	93,603,249 (GRCm39)	missense	probably damaging	1.00
R7700:Dop1b	UTSW	16	93,595,649 (GRCm39)	splice site	probably null
R7763:Dop1b	UTSW	16	93,552,402 (GRCm39)	missense	probably benign	0.00
R7814:Dop1b	UTSW	16	93,596,859 (GRCm39)	missense	probably damaging	1.00
R7839:Dop1b	UTSW	16	93,560,829 (GRCm39)	missense	probably damaging	1.00
R7862:Dop1b	UTSW	16	93,546,851 (GRCm39)	missense	probably damaging	1.00
R7894:Dop1b	UTSW	16	93,607,092 (GRCm39)	missense	probably benign	0.01
R7952:Dop1b	UTSW	16	93,546,848 (GRCm39)	missense	possibly damaging	0.93
R7956:Dop1b	UTSW	16	93,567,916 (GRCm39)	critical splice donor site	probably null
R8033:Dop1b	UTSW	16	93,566,371 (GRCm39)	missense	probably benign
R8061:Dop1b	UTSW	16	93,546,884 (GRCm39)	missense	probably damaging	1.00
R8067:Dop1b	UTSW	16	93,562,336 (GRCm39)	nonsense	probably null
R8146:Dop1b	UTSW	16	93,546,827 (GRCm39)	missense	possibly damaging	0.95
R8184:Dop1b	UTSW	16	93,573,881 (GRCm39)	missense	probably benign	0.13
R8221:Dop1b	UTSW	16	93,546,847 (GRCm39)	missense	probably benign	0.01
R8263:Dop1b	UTSW	16	93,559,083 (GRCm39)	missense	possibly damaging	0.87
R8329:Dop1b	UTSW	16	93,568,675 (GRCm39)	missense	probably damaging	1.00
R8555:Dop1b	UTSW	16	93,568,698 (GRCm39)	missense	probably damaging	1.00
R8683:Dop1b	UTSW	16	93,570,809 (GRCm39)	missense	probably benign
R8683:Dop1b	UTSW	16	93,568,699 (GRCm39)	missense	probably damaging	0.98
R8716:Dop1b	UTSW	16	93,577,673 (GRCm39)	nonsense	probably null
R8840:Dop1b	UTSW	16	93,607,005 (GRCm39)	missense	probably benign	0.08
R8851:Dop1b	UTSW	16	93,559,398 (GRCm39)	missense	probably benign	0.39
R8884:Dop1b	UTSW	16	93,556,550 (GRCm39)	missense	probably benign
R8976:Dop1b	UTSW	16	93,558,969 (GRCm39)	missense	probably benign	0.01
R9219:Dop1b	UTSW	16	93,567,184 (GRCm39)	missense	probably damaging	1.00
R9238:Dop1b	UTSW	16	93,546,018 (GRCm39)	missense	probably benign	0.14
R9284:Dop1b	UTSW	16	93,557,196 (GRCm39)	missense	probably damaging	1.00
R9289:Dop1b	UTSW	16	93,568,681 (GRCm39)	missense	probably damaging	1.00
R9298:Dop1b	UTSW	16	93,597,087 (GRCm39)	missense	probably damaging	0.96
R9338:Dop1b	UTSW	16	93,600,448 (GRCm39)	missense	probably damaging	1.00
R9346:Dop1b	UTSW	16	93,577,702 (GRCm39)	critical splice donor site	probably null
R9444:Dop1b	UTSW	16	93,607,127 (GRCm39)	missense	probably benign	0.00
R9500:Dop1b	UTSW	16	93,607,171 (GRCm39)	missense	probably benign
R9601:Dop1b	UTSW	16	93,544,531 (GRCm39)	missense	possibly damaging	0.87
R9793:Dop1b	UTSW	16	93,598,503 (GRCm39)	missense	probably benign	0.30
Z1088:Dop1b	UTSW	16	93,560,214 (GRCm39)	missense	probably benign	0.00
Z1176:Dop1b	UTSW	16	93,604,756 (GRCm39)	missense	possibly damaging	0.82
Z1176:Dop1b	UTSW	16	93,600,434 (GRCm39)	missense	probably damaging	1.00
Z1176:Dop1b	UTSW	16	93,566,469 (GRCm39)	missense	probably benign	0.00
Z1177:Dop1b	UTSW	16	93,560,783 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGATCCCTAAGTGTCTTTCCAGG -3'
(R):5'- GCTCCTGGATGCAGAGAAATG -3'

Sequencing Primer
(F):5'- AAGTGTCTTTCCAGGCTGGCC -3'
(R):5'- AGAAATGTCGCCTGCATGGTC -3'

Posted On

2021-04-30